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ERBIN erbb2 interacting protein [ Homo sapiens (human) ]

Gene ID: 55914, updated on 11-Apr-2024

Summary

Official Symbol
ERBINprovided by HGNC
Official Full Name
erbb2 interacting proteinprovided by HGNC
Primary source
HGNC:HGNC:15842
See related
Ensembl:ENSG00000112851 MIM:606944; AllianceGenome:HGNC:15842
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LAP2; ERBB2IP; HEL-S-78
Summary
This gene is a member of the leucine-rich repeat and PDZ domain (LAP) family. The encoded protein contains 17 leucine-rich repeats and one PDZ domain. It binds to the unphosphorylated form of the ERBB2 protein and regulates ERBB2 function and localization. It has also been shown to affect the Ras signaling pathway by disrupting Ras-Raf interaction. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Expression
Ubiquitous expression in small intestine (RPKM 17.6), lymph node (RPKM 17.5) and 25 other tissues See more
Orthologs
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Genomic context

Location:
5q12.3
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (65926575..66082546)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (66748417..66903759)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (65222403..65378374)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene trafficking protein particle complex subunit 13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22609 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:65015266-65015462 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16056 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16057 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16058 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:65018623-65019444 Neighboring gene small glutamine rich tetratricopeptide repeat co-chaperone beta Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16059 Neighboring gene PRAME family member 17 pseudogene Neighboring gene neurolysin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16060 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:65220503-65221127 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:65221752-65222376 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22612 Neighboring gene LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene Neighboring gene small nucleolar RNA SNORA76 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22613 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:65280169-65280787 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:65283311-65283508 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22614 Neighboring gene uncharacterized LOC124900987 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16063 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22617 Neighboring gene splicing regulatory glutamic acid and lysine rich protein 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ErbB-2 class receptor binding TAS
Traceable Author Statement
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables structural constituent of cytoskeleton NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in basal protein localization NAS
Non-traceable Author Statement
more info
PubMed 
involved_in cell adhesion NAS
Non-traceable Author Statement
more info
PubMed 
involved_in cellular response to tumor necrosis factor IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in epidermal growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
involved_in establishment or maintenance of epithelial cell apical/basal polarity NAS
Non-traceable Author Statement
more info
PubMed 
involved_in integrin-mediated signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
involved_in intermediate filament cytoskeleton organization NAS
Non-traceable Author Statement
more info
PubMed 
involved_in negative regulation of NF-kappaB transcription factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of monocyte chemotactic protein-1 production IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein targeting IEA
Inferred from Electronic Annotation
more info
 
involved_in response to lipopolysaccharide IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to muramyl dipeptide IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
located_in basal plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in basement membrane TAS
Traceable Author Statement
more info
PubMed 
located_in basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell junction IDA
Inferred from Direct Assay
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
located_in hemidesmosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in neuromuscular junction IEA
Inferred from Electronic Annotation
more info
 
located_in nuclear membrane IEA
Inferred from Electronic Annotation
more info
 
located_in nuclear speck IDA
Inferred from Direct Assay
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
erbin
Names
densin-180-like protein
epididymis secretory protein Li 78
protein LAP2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_031822.2 RefSeqGene

    Range
    5022..160993
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001006600.3NP_001006600.1  erbin isoform 7

    See identical proteins and their annotated locations for NP_001006600.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks two consecutive exons in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (7) is shorter than isoform 1.
    Source sequence(s)
    AB033051, AC025442, BC144075, BP199825, BP342103, BU145959, DA723889, DR000131, N67861
    Consensus CDS
    CCDS34172.1
    UniProtKB/TrEMBL
    A0A8V8TP09
    Related
    ENSP00000422015.1, ENST00000508515.2
    Conserved Domains (4) summary
    cd00116
    Location:48209
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd00992
    Location:12121297
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    sd00033
    Location:2447
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:322380
    LRR_8; Leucine rich repeat
  2. NM_001253697.2NP_001240626.1  erbin isoform 1

    See identical proteins and their annotated locations for NP_001240626.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AB033051, AC025442, AF276423, BC144075, BP342103, DR000131, N67861
    Consensus CDS
    CCDS58953.1
    UniProtKB/Swiss-Prot
    A0AVR1, B4E3F1, B7ZLV9, E7EQW9, E9PCR8, Q1RMD0, Q86W38, Q96RT1, Q9NR18, Q9NW48, Q9ULJ5
    UniProtKB/TrEMBL
    Q1RMC9
    Related
    ENSP00000284037.4, ENST00000284037.10
    Conserved Domains (5) summary
    cd00116
    Location:48209
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd00992
    Location:13211407
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    sd00033
    Location:2447
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:368411
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:322380
    LRR_8; Leucine rich repeat
  3. NM_001253698.2NP_001240627.1  erbin isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two exons in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
    Source sequence(s)
    AB033051, AC025442, AK304693, BC144075, BP342103, DR000131, N67861
    Consensus CDS
    CCDS58954.1
    UniProtKB/TrEMBL
    Q1RMC9
    Related
    ENSP00000370325.2, ENST00000380938.6
    Conserved Domains (5) summary
    cd00116
    Location:48209
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd00992
    Location:12801341
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    sd00033
    Location:2447
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:368411
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:322380
    LRR_8; Leucine rich repeat
  4. NM_001253699.2NP_001240628.1  erbin isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks an exon and includes an alternate exon in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (8) is longer than isoform 1.
    Source sequence(s)
    AB033051, AC025442, BC144075, BP342103, DR000131, N67861
    Consensus CDS
    CCDS58952.1
    UniProtKB/TrEMBL
    Q1RMC9
    Related
    ENSP00000426632.1, ENST00000506030.6
    Conserved Domains (5) summary
    cd00116
    Location:48209
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd00992
    Location:13281414
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    sd00033
    Location:2447
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:368411
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:322380
    LRR_8; Leucine rich repeat
  5. NM_001253701.2NP_001240630.1  erbin isoform 9

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) uses an alternate splice site and lacks an exon in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (9) is shorter than isoform 1.
    Source sequence(s)
    AB033051, AC025442, BC050692, BC144075, BP342103, DR000131, N67861
    Consensus CDS
    CCDS58951.1
    UniProtKB/TrEMBL
    Q1RMC9
    Related
    ENSP00000422766.1, ENST00000511297.5
    Conserved Domains (5) summary
    cd00116
    Location:48209
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd00992
    Location:12761362
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    sd00033
    Location:2447
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:368411
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:322380
    LRR_8; Leucine rich repeat
  6. NM_018695.4NP_061165.1  erbin isoform 2

    See identical proteins and their annotated locations for NP_061165.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AB033051, AC025442, BC126464, BC144075, BP342103, DR000131, N67861
    Consensus CDS
    CCDS3990.1
    UniProtKB/TrEMBL
    Q1RMC9
    Related
    ENSP00000370330.2, ENST00000380943.6
    Conserved Domains (5) summary
    cd00116
    Location:48209
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd00992
    Location:12801366
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    sd00033
    Location:2447
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:368411
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:322380
    LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    65926575..66082546
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047417376.1XP_047273332.1  erbin isoform X1

  2. XM_047417378.1XP_047273334.1  erbin isoform X3

  3. XM_047417380.1XP_047273336.1  erbin isoform X5

    UniProtKB/Swiss-Prot
    A0AVR1, B4E3F1, B7ZLV9, E7EQW9, E9PCR8, Q1RMD0, Q86W38, Q96RT1, Q9NR18, Q9NW48, Q9ULJ5
  4. XM_047417382.1XP_047273338.1  erbin isoform X7

  5. XM_047417384.1XP_047273340.1  erbin isoform X9

  6. XM_047417377.1XP_047273333.1  erbin isoform X2

    Related
    ENSP00000425728.2, ENST00000511671.6
  7. XM_047417379.1XP_047273335.1  erbin isoform X4

    UniProtKB/TrEMBL
    A0A8V8TPC7
    Related
    ENSP00000514083.1, ENST00000699005.1
  8. XM_047417381.1XP_047273337.1  erbin isoform X6

  9. XM_047417383.1XP_047273339.1  erbin isoform X8

  10. XM_047417385.1XP_047273341.1  erbin isoform X10

    UniProtKB/TrEMBL
    A0A8V8TML4
    Related
    ENSP00000514089.1, ENST00000699010.1
  11. XM_005248554.4XP_005248611.1  erbin isoform X1

    See identical proteins and their annotated locations for XP_005248611.1

    UniProtKB/TrEMBL
    Q1RMC9
    Conserved Domains (5) summary
    cd00116
    Location:48209
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd00992
    Location:13691455
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    sd00033
    Location:2447
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:368411
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:322380
    LRR_8; Leucine rich repeat
  12. XM_047417386.1XP_047273342.1  erbin isoform X11

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    66748417..66903759
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054352922.1XP_054208897.1  erbin isoform X1

  2. XM_054352925.1XP_054208900.1  erbin isoform X3

  3. XM_054352927.1XP_054208902.1  erbin isoform X5

    UniProtKB/Swiss-Prot
    A0AVR1, B4E3F1, B7ZLV9, E7EQW9, E9PCR8, Q1RMD0, Q86W38, Q96RT1, Q9NR18, Q9NW48, Q9ULJ5
  4. XM_054352929.1XP_054208904.1  erbin isoform X7

  5. XM_054352931.1XP_054208906.1  erbin isoform X9

  6. XM_054352924.1XP_054208899.1  erbin isoform X2

  7. XM_054352926.1XP_054208901.1  erbin isoform X4

  8. XM_054352928.1XP_054208903.1  erbin isoform X6

  9. XM_054352930.1XP_054208905.1  erbin isoform X8

  10. XM_054352932.1XP_054208907.1  erbin isoform X10

    UniProtKB/TrEMBL
    A0A8V8TML4
  11. XM_054352923.1XP_054208898.1  erbin isoform X1

  12. XM_054352933.1XP_054208908.1  erbin isoform X11